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Gene

PHKG2

phosphorylase kinase catalytic subunit gamma 2

Summary

Cytogenetic location
16p11.2
Coordinates
Chromosome 16: 30,748,425–30,761,176 (GRCh38)
Exons
10 exons across 12.8 kb
Protein
406 amino acids
MANE Select transcript
ENST00000563588.6NM_000294.3
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

  • Glycogen Storage Disease

    • Glycogen Storage Disease Type IX

      Caused by variants in PHKA2, PHKB, PHKG2 or PHKA1, which can cause an enlarged liver, low blood sugar during fasting or, in the PHKA1 form, exercise-related muscle symptoms.

      • ClinGen rates the link definitive
      • 4 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing allows avoidance of prolonged fasting, dietary management and liver monitoring, especially in the PHKG2 form.

How PHKG2 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 16, with a bracket where PHKG2 sits. PHKG2 and 47 genes near it on chromosome 16, from 30,254,801 to 31,254,800.Chromosome 1616p11.2p13.3p13.2p13.13p13.12p13.11p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12.1q12.2q13q21q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.330.4 Mb30.6 Mb30.8 Mb31 Mb31.2 MbNPIPB13: 30,222,893–30,255,268, reverse strandNPIPB13CD2BP2: 30,341,365–30,355,851, reverse strandCD2BP2TBC1D10B: 30,357,102–30,370,529, reverse strandMYL11: 30,370,332–30,377,991, forward strandMYL11ZNF48: 30,378,106–30,400,108, forward strandZNF48SEPTIN1: 30,378,135–30,395,991, reverse strandZNF771: 30,407,143–30,431,108, forward strandZNF771DCTPP1: 30,413,033–30,430,162, reverse strandDCTPP1SEPHS2: 30,443,631–30,445,874, reverse strandSEPHS2ITGAL: 30,472,658–30,523,567, forward strandZNF768: 30,524,001–30,527,328, reverse strand: 30,525,923–30,534,852, reverse strandZNF747: 30,529,534–30,535,347, reverse strandZNF747ZNF764: 30,553,764–30,558,524, reverse strandZNF764ZNF688: 30,569,281–30,572,734, reverse strandZNF688ZNF785: 30,573,740–30,585,806, reverse strandZNF785ZNF689: 30,602,558–30,624,012, reverse strandZNF689: 30,610,211–30,610,351, reverse strandPRR14: 30,650,696–30,656,427, forward strandPRR14FBRS: 30,658,431–30,670,810, forward strandFBRSSRCAP: 30,698,128–30,741,409, forward strand: 30,704,067–30,745,169, forward strandTMEM265: 30,737,880–30,745,196, forward strandTMEM265PHKG2: 30,748,425–30,761,176, forward strandPHKG2CFAP119: 30,757,423–30,762,221, reverse strandCFAP119RNF40: 30,761,561–30,780,421, forward strandRNF40ZNF629: 30,778,456–30,787,214, reverse strandBCL7C: 30,818,695–30,894,302, reverse strandBCL7CCTF1: 30,896,607–30,903,547, forward strandCTF1FBXL19: 30,923,055–30,948,783, forward strandFBXL19ORAI3: 30,949,055–30,956,511, forward strandORAI3SETD1A: 30,957,294–30,984,664, forward strandSETD1AHSD3B7: 30,985,029–30,989,154, forward strandHSD3B7STX1B: 30,989,256–31,010,897, reverse strandSTX1BSTX4: 31,032,889–31,042,975, forward strandSTX4ZNF668: 31,059,772–31,074,240, reverse strandZNF668ZNF646: 31,074,394–31,084,196, forward strandZNF646PRSS53: 31,083,437–31,089,628, reverse strandPRSS53: 31,083,439–31,094,956, reverse strandVKORC1: 31,090,260–31,095,980, reverse strandBCKDK: 31,106,107–31,113,464, forward strandKAT8: 31,114,489–31,131,396, forward strandKAT8PRSS8: 31,131,433–31,135,727, reverse strandPRSS36: 31,138,926–31,150,213, reverse strandPRSS36FUS: 31,180,131–31,196,963, forward strandFUSPYCARD: 31,201,486–31,203,450, reverse strandPYCARDTRIM72: 31,214,017–31,231,537, forward strandTRIM72PYDC1: 31,215,962–31,217,162, reverse strandPYDC1Diagram of PHKG2: 10 exons on the forward strand of chromosome 16Exon 2: 3 known disease-causing sitesExon 3: 7 known disease-causing sitesExon 4: 2 known disease-causing sitesExon 5: 3 known disease-causing sitesExon 6: 7 known disease-causing sitesExon 7: 1 known disease-causing siteExon 8: 8 known disease-causing sitesExon 9: 8 known disease-causing sitesExon 10: 2 known disease-causing sitesExon 1: 30,748,425–30,748,490, 66 basesExon 2: 30,748,803–30,748,915, 113 basesExon 3: 30,751,106–30,751,281, 176 basesExon 4: 30,751,549–30,751,603, 55 basesExon 5: 30,753,232–30,753,297, 66 basesExon 6: 30,753,394–30,753,557, 164 basesExon 7: 30,756,182–30,756,272, 91 basesExon 8: 30,756,367–30,756,520, 154 basesExon 9: 30,756,590–30,756,715, 126 basesExon 10: 30,756,804–30,761,176, 4,373 bases123456789105′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 5.4 kb of the gene's 12.8 kb; 1,221 of those bases code for the protein.

How a genome test reads PHKG2

50

positions in PHKG2 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 12.8 kb of PHKG2, introns included, not only the 5.4 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). PHKG2 gene: phosphorylase kinase catalytic subunit gamma 2. Retrieved 17 October 2026, from https://dantelabs.com/genes/phkg2

Vancouver

Dante Labs. PHKG2 gene: phosphorylase kinase catalytic subunit gamma 2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/phkg2

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